Variant report

Variant	rs7705935
Chromosome Location	chr5:43198652-43198653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43196245..43198333-chr5:43198652..43200698,2	K562	blood:
2	chr5:43120857..43122477-chr5:43198085..43201200,3	K562	blood:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10040001	1.00[YRI][hapmap]
rs10043820	1.00[YRI][hapmap]
rs10044622	1.00[YRI][hapmap]
rs10051664	1.00[YRI][hapmap]
rs10070435	1.00[AMR][1000 genomes]
rs10473298	1.00[YRI][hapmap]
rs10473299	1.00[YRI][hapmap]
rs10805669	1.00[AMR][1000 genomes]
rs10971	1.00[CHD][hapmap];1.00[AMR][1000 genomes]
rs1690990	1.00[AMR][1000 genomes]
rs4473775	1.00[AMR][1000 genomes]
rs4533896	0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4588602	1.00[AMR][1000 genomes]
rs4637561	1.00[AMR][1000 genomes]
rs634129	1.00[AMR][1000 genomes]
rs6451679	1.00[AMR][1000 genomes]
rs6859504	0.82[YRI][hapmap]
rs6859969	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6868271	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6868325	1.00[AMR][1000 genomes]
rs6880391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6883407	1.00[AMR][1000 genomes]
rs7726407	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7727600	1.00[ASW][hapmap]
rs782992	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43195000-43203200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:43195000-43209000	Weak transcription	Brain Substantia Nigra	brain
3	chr5:43196000-43199800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:43196200-43208800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:43196400-43200600	Weak transcription	GM12878-XiMat	blood
7	chr5:43196400-43205000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:43196400-43208800	Weak transcription	Brain Angular Gyrus	brain
9	chr5:43196400-43208800	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:43196400-43208800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:43196400-43209200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:43198200-43200000	Enhancers	K562	blood
13	chr5:43198600-43208800	Weak transcription	Brain Anterior Caudate	brain

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